Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000238247 Individual ID 00313947 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details high forehead, no horizontal eyebrows, no upslanting of palpebral fissures, no synophrys, depressed nasal bridge, no bulbous nasal tip, round face, cupid-bow upper lip, no thin vermilion border, no prognathism; open foramen ovale, no ventricular septal defect, no coarctation of the aorta, no pulmonary atresia, no tetralogy of Tallot, no dextro-looped transposition great arteries, no supracardial total anomalous pulmonary venous connection; intellectual disability/developmental delay; motor delay; severe speech impairment; no hypotonia; no seizures; no microcephaly; mild macrocephaly Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-10-08 11:15:55 +02:00 (CEST) Date last edited N/A

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